摘要
目的探讨应用微阵列比较基因组杂交技术(array comparative genomic hybridization,aCGH)诊断2例7q11.22微缺失,并分析其临床表现和7q11.22缺失的相关性。方法对应用常规染色体核型分析未见异常的2例不明原因智力低下/发育迟缓患儿采用aCGH技术进行全基因组拷贝数变化(copy number variations,CNVs)分析。结果发现2例患儿均为7q11.22片段缺失,分别位于:chr7:69479621-69539140;chr7:69945652-70019838,经与数据库比对均为致病性缺失片段(AUTS2基因)。结论 aCGH技术可以弥补染色体核型分析的不足,具有更高的分辨率,更具有临床应用价值。
Objective To investigate the diagnosis of 2 cases with 7qll. 22 mierodeletion by applying array based comparative genomic hybridization （aCGH） and to analyze the relationship between the clinical manifestations and 7111.22 microdeletion. Method The aCGH technique was used to detect genomic copy number variations （CNVs） in 2 cases with normal karyotype after conventional chromosomal karyotyping. Result The aCGH detected 7qll. 22 deletion （chr7： 69479621-69539140 and chr7： 69945652-70019838）, which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion The array-CGH could serve as a useful complement for G-banding and to be used in the clini cal eytogenetic diagnosis.
出处
《中国儿童保健杂志》
CAS
2015年第8期885-887,共3页
Chinese Journal of Child Health Care
基金
国家自然科学基金(81273002)
